OBM Genetics is an international Open Access journal published quarterly online by LIDSEN Publishing Inc. It accepts papers addressing basic and medical aspects of genetics and epigenetics and also ethical, legal and social issues. Coverage includes clinical, developmental, diagnostic, evolutionary, genomic, mitochondrial, molecular, oncological, population and reproductive aspects. It publishes research articles, reviews, communications and technical notes, etc. There is no restriction on the length of the papers and we encourage scientists to publish their results in as much detail as possible.

Indexing: DOAJ-Directory of Open Access Journals.

Archiving: full-text archived in CLOCKSS.

Rapid publication: manuscripts are undertaken in 8.5 days from acceptance to publication (median values for papers published in this journal in the first half of 2019, 1-2 days of FREE language polishing time is also included in this period).

Current Issue: 2020  Archive: 2019 2018 2017

Special Issue

Genetic Screening

Submission Deadline: July 31, 2017 (Closed) Submit Now

Guest Editors

Joanne Traeger-Synodinos, DPhil (Oxon)

Associate Professor of Genetics, Department of Medical Genetics, School of Medicine, National and Kapodistrian University of Athens, Athens 11527, Greece

Website | E-Mail

Research Interests: medical genetics; molecular genetics; reproductive genetics

François Rousseau, MD, MSc, FRCPC, FCAHS

Full Professor, Department of Medical Biology, Biochemistry and Pathology, Faculty of Medicine, Laval University, Québec, Québec G1L 3L5, Canada

Website | E-Mail

Research Interests: laboratory medicine; evaluative research; population genetics; genetic epidemiology; technology transfer; health systems research

About This Topic

The impact of genetic diseases on health care systems, and society overall, is substantial. Diseases with a genetic component account for an significant proportion of death, morbidity, physical and/or mental handicap and disability, as well as reproductive failure (infertility, miscarriage etc). It is estimated that almost 8% of individuals up to the age of 25 years may be diagnosed with a genetic condition, over 30% of childhood hospital admissions have a disorder that is, at least partly, genetically determined, and the genetic component of many common multifactorial diseases should not be underestimated. 

Genetic screening aims to reduce the prevalence of genetic disorders and/or support decisions and choices with family planning by testing individuals without symptoms nor a family history of a genetic disease. Genetic screening thus involves the systematic and timely detection or exclusion of a hereditary disease, or the predisposition to a genetic disease or to establish if a person or couple carries a condition that could lead to a hereditary disease in offspring.

In this special issue of OBM Genetics, we have selected topics that highlight the progress, the state-of–the-art and future potential of genetic screening, ranging from practical and technological aspects through to social and ethical issues. Overall this issue provides information to promote and support optimal quality in standards of genetic screening in medical practice. 

Publication

Open Access Editorial

Introduction to Genetic Screening

Received: 06 September 2019;  Published: 11 September 2019;  doi: 10.21926/obm.genet.1903094

Abstract

We present here the content and articles of this special issue on genetic screening, putting them in perspective with the field and between themselves.
Open Access Review

Newborn Screening for Genetic Diseases: An Overview of Current and Future Applications

Received: 01 July 2019;  Published: 06 September 2019;  doi: 10.21926/obm.genet.1903093

Abstract

Newborn screening (NBS) for inborn errors of metabolism (IEM) was introduced more than 50 years ago with the testing of phenylketonuria (PKU) using blood spots deposited on a filter paper after heel prick. NBS aims to identify early after birth inherited disorders for which clinical management and p [...]
Open Access Original Research

Newborn Screening Programs: Next Generation Ethical and Social Issues

Received: 19 October 2017;  Published: 14 August 2018;  doi: 10.21926/obm.genet.1803027

Abstract

Although newborn screening programs are among the ten most important public health achievements, a number of ethical, legal and social issues have emerged. Notably, the number of diseases screened; consent and notification processes; sample, retention; and potentially secondary use of residual blood [...]
Open Access Opinion

Moving Towards Routine Non-Invasive Prenatal Testing (NIPT): Challenges Related to Women’s Autonomy

Received: 10 February 2018;  Published: 19 April 2018;  doi: 10.21926/obm.genet.1802018

Abstract

Women’s reproductive autonomy, and its translation into informed free choice regarding prenatal testing, is a dominant concept in the bioethical discourse concerning prenatal testing. This discourse is based on the premise that access to information regarding the pregnancy promotes autonomous decisi [...]
Open Access Opinion

Responsible Implementation of Expanded Screening Programs for Genetic Diseases at the Beginning of Life

Received: 13 July 2017;  Published: 11 February 2018;  doi: 10.21926/obm.genet.1801013

Abstract

Technology makes it possible to expand many of the current screening programs. In preconception screening for carrier status of recessive diseases, prenatal screening for aneuploidies and neonatal screening initially programs were targeting one or a few conditions. Tandem mass spectrometry and genom [...]
Open Access Review

Carrier Screening for Cystic Fibrosis: Past, Present and Future

Received: 31 July 2017;  Published: 01 November 2017;  doi: 10.21926/obm.genet.1704010

Abstract

Cystic Fibrosis (CF) is one of the commonest autosomal recessive genetic diseases that show a high carrier frequency amongst Caucasian populations. Although there has been tremendous progress in the available therapies, compared to the past, the disease is still associated with significant morbidity [...]
Open Access Review

Preimplantation Genetic Screening

Received: 11 August 2017;  Published: 26 October 2017;  doi: 10.21926/obm.genet.1704009

Abstract

The main aim of PGS has always been to improve IVF outcome, especially in patient groups assumed to have higher rates of chromosomally abnormal embryos, such as patients of advanced maternal age. In that sense, PGS is quite different from other types of screening as discussed in other papers in this [...]
Open Access Review

Prenatal Screening for Fetal Aneuploidy

Received: 01 August 2017;  Published: 26 September 2017;  doi: 10.21926/obm.genet.1703007

Abstract

Prenatal genetic aneuploidy screening approaches are designed to identify pregnant patients at increased risk of having a fetus affected. Conventional prenatal screening has consisted in providing women a risk estimate of having a pregnancy affected with trisomy 21 or trisomy 18 based on maternal ag [...]
Open Access Review

Avoiding the Technological Imperative: Criteria for Genetic Screening Programs

Received: 30 July 2017;  Published: 21 September 2017;  doi: 10.21926/obm.genet.1703006

Abstract

Genetic screening is the process of systematically evaluating a defined population for genetic conditions or predispositions, in the hope of providing benefit to those with a positive result. With advances in sequencing technology, genetic screening is moving from phenotype-based to genotype-based t [...]
Open Access Review

Carrier Screening for the Haemoglobinopathies: Past, Present and Future

Received: 03 July 2017;  Published: 14 August 2017;  doi: 10.21926/obm.genet.1703005

Abstract

Carrier screening for the haemoglobinopathies has undergone many technological improvements in haematological and molecular diagnostic techniques since the first prenatal diagnoses by DNA analysis in the 1970s by Southern blot analysis enabled the implementation of effective successful prevention pr [...]
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